Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
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Adenosine deaminase 2

The ADA2 gene encodes an important regulatory enzyme that deaminates adenosine. Mutations cause autosomal recessive ADA2 deficiency and Sneddon syndrome.

Genetests:

Clinic Method Carrier testing
Turnaround 5 days
Specimen type genomic DNA
Research Method Genomic sequencing of the entire coding region
Turnaround 25 days
Specimen type genomic DNA

Related Diseases:

Sneddon syndrome
ADA2
Vasculitis due to ADA2 deficiency
ADA2

References:

1.

Riazi MA et al. (2000) The human homolog of insect-derived growth factor, CECR1, is a candidate gene for features of cat eye syndrome.

2.

Mascarenhas R et. al. () Familial Sneddon's syndrome.

3.

Zavialov AV et al. (2005) Human ADA2 belongs to a new family of growth factors with adenosine deaminase activity.

4.

Zavialov AV et al. (2010) Structural basis for the growth factor activity of human adenosine deaminase ADA2.

5.

Zhou Q et. al. (2014) Early-onset stroke and vasculopathy associated with mutations in ADA2.

6.

Navon Elkan P et. al. (2014) Mutant adenosine deaminase 2 in a polyarteritis nodosa vasculopathy.

7.

Bras J et. al. (2014) Mutant ADA2 in vasculopathies.

8.

Van Montfrans JM et. al. (2016) Phenotypic variability in patients with ADA2 deficiency due to identical homozygous R169Q mutations.

9.

None (2018) Vasculopathy, Immunodeficiency, and Bone Marrow Failure: The Intriguing Syndrome Caused by Deficiency of Adenosine Deaminase 2.

10.
Update: Aug. 14, 2020
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